Incidental Mutation 'R5936:Trappc8'
ID |
462299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc8
|
Ensembl Gene |
ENSMUSG00000033382 |
Gene Name |
trafficking protein particle complex 8 |
Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
MMRRC Submission |
044130-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
R5936 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21007745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 123
(F123L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000097658]
[ENSMUST00000225661]
|
AlphaFold |
A0A286YCX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025177
AA Change: F123L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025177 Gene: ENSMUSG00000033382 AA Change: F123L
Domain | Start | End | E-Value | Type |
Pfam:TRAPPC-Trs85
|
157 |
604 |
1e-167 |
PFAM |
low complexity region
|
769 |
777 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097658
AA Change: F123L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000095262 Gene: ENSMUSG00000033382 AA Change: F123L
Domain | Start | End | E-Value | Type |
Pfam:TRAPPC-Trs85
|
152 |
605 |
9.3e-135 |
PFAM |
low complexity region
|
769 |
777 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225661
AA Change: F123L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
91% (77/85) |
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
Acnat2 |
T |
C |
4: 49,383,362 (GRCm39) |
T64A |
probably benign |
Het |
Afap1 |
A |
G |
5: 36,131,740 (GRCm39) |
N356D |
possibly damaging |
Het |
Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
Ankrd46 |
T |
C |
15: 36,479,428 (GRCm39) |
D221G |
probably benign |
Het |
Ano6 |
T |
A |
15: 95,870,482 (GRCm39) |
L900H |
probably damaging |
Het |
Asphd2 |
G |
A |
5: 112,533,623 (GRCm39) |
R343* |
probably null |
Het |
Atosa |
T |
C |
9: 74,916,586 (GRCm39) |
L395P |
probably benign |
Het |
Brdt |
A |
G |
5: 107,507,261 (GRCm39) |
T554A |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,893,271 (GRCm39) |
V401A |
possibly damaging |
Het |
Cbs |
T |
C |
17: 31,844,068 (GRCm39) |
T188A |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,798,274 (GRCm39) |
T1662S |
probably benign |
Het |
Chka |
A |
G |
19: 3,934,580 (GRCm39) |
I205V |
probably benign |
Het |
Chsy1 |
T |
A |
7: 65,822,025 (GRCm39) |
N753K |
possibly damaging |
Het |
Cpz |
A |
G |
5: 35,659,987 (GRCm39) |
S553P |
probably benign |
Het |
Crtac1 |
A |
G |
19: 42,312,276 (GRCm39) |
Y146H |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,258,880 (GRCm39) |
I700F |
probably damaging |
Het |
Ddx20 |
C |
A |
3: 105,587,903 (GRCm39) |
E392D |
possibly damaging |
Het |
Dhrs11 |
G |
T |
11: 84,716,350 (GRCm39) |
Y67* |
probably null |
Het |
Diaph3 |
G |
T |
14: 87,009,552 (GRCm39) |
Q1076K |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,418,565 (GRCm39) |
L2037* |
probably null |
Het |
Dst |
G |
T |
1: 34,346,539 (GRCm39) |
V5336L |
probably damaging |
Het |
Etv1 |
C |
A |
12: 38,885,209 (GRCm39) |
H248Q |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,786,117 (GRCm39) |
V518A |
probably damaging |
Het |
Fchsd2 |
T |
C |
7: 100,840,908 (GRCm39) |
L139S |
probably damaging |
Het |
Fer |
A |
T |
17: 64,231,058 (GRCm39) |
T270S |
probably benign |
Het |
Fgd5 |
A |
G |
6: 91,964,892 (GRCm39) |
E375G |
probably damaging |
Het |
Firrm |
T |
G |
1: 163,814,581 (GRCm39) |
I121L |
probably benign |
Het |
Gabarapl1 |
T |
A |
6: 129,515,566 (GRCm39) |
I68N |
probably benign |
Het |
Gopc |
C |
T |
10: 52,222,295 (GRCm39) |
V30M |
probably damaging |
Het |
Hbp1 |
T |
C |
12: 31,987,095 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
G |
2: 180,872,560 (GRCm39) |
V2480A |
probably damaging |
Het |
Igfbp3 |
T |
A |
11: 7,159,472 (GRCm39) |
Y247F |
probably damaging |
Het |
Kbtbd11 |
C |
A |
8: 15,077,534 (GRCm39) |
S44R |
probably benign |
Het |
Kcnk10 |
G |
T |
12: 98,456,191 (GRCm39) |
S213R |
probably benign |
Het |
Kcnq3 |
T |
A |
15: 65,871,959 (GRCm39) |
D570V |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,819,850 (GRCm39) |
F1594S |
possibly damaging |
Het |
Klf3 |
A |
G |
5: 64,980,303 (GRCm39) |
D31G |
probably damaging |
Het |
Mapkapk3 |
T |
C |
9: 107,166,369 (GRCm39) |
K59E |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,709,039 (GRCm39) |
T484A |
probably damaging |
Het |
Nlrp6 |
T |
A |
7: 140,502,725 (GRCm39) |
L277* |
probably null |
Het |
Nr5a1 |
G |
T |
2: 38,591,790 (GRCm39) |
|
probably benign |
Het |
Nsmaf |
C |
T |
4: 6,421,017 (GRCm39) |
|
probably benign |
Het |
Or4f58 |
T |
A |
2: 111,851,932 (GRCm39) |
H89L |
probably benign |
Het |
Orc1 |
A |
G |
4: 108,459,180 (GRCm39) |
T450A |
probably benign |
Het |
Pacsin1 |
A |
T |
17: 27,923,971 (GRCm39) |
I122F |
probably benign |
Het |
Pced1b |
T |
A |
15: 97,283,061 (GRCm39) |
Y367N |
possibly damaging |
Het |
Pced1b |
T |
A |
15: 97,283,063 (GRCm39) |
Y367* |
probably null |
Het |
Pdpk1 |
A |
G |
17: 24,312,203 (GRCm39) |
F281L |
probably damaging |
Het |
Piwil1 |
T |
C |
5: 128,828,142 (GRCm39) |
V714A |
probably benign |
Het |
Plcd3 |
C |
T |
11: 102,969,173 (GRCm39) |
V265M |
probably damaging |
Het |
Ppp1r1c |
A |
T |
2: 79,586,798 (GRCm39) |
E48V |
possibly damaging |
Het |
Prl2b1 |
T |
G |
13: 27,572,432 (GRCm39) |
T53P |
probably damaging |
Het |
Ptch2 |
T |
G |
4: 116,965,491 (GRCm39) |
F359V |
probably benign |
Het |
R3hdm2 |
G |
A |
10: 127,307,681 (GRCm39) |
S314N |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,813,642 (GRCm39) |
S1043C |
probably damaging |
Het |
Rtn4rl2 |
A |
T |
2: 84,710,775 (GRCm39) |
L163Q |
probably damaging |
Het |
Sarnp |
T |
A |
10: 128,684,640 (GRCm39) |
S129T |
probably benign |
Het |
Scube3 |
A |
T |
17: 28,384,461 (GRCm39) |
K585M |
probably damaging |
Het |
Sgk3 |
C |
T |
1: 9,956,045 (GRCm39) |
|
probably benign |
Het |
Skint6 |
C |
T |
4: 112,953,790 (GRCm39) |
S458N |
probably benign |
Het |
Slc25a54 |
A |
G |
3: 109,005,954 (GRCm39) |
H154R |
possibly damaging |
Het |
Sorbs1 |
A |
C |
19: 40,313,216 (GRCm39) |
I690S |
probably damaging |
Het |
Sqle |
C |
A |
15: 59,202,678 (GRCm39) |
A512D |
probably damaging |
Het |
Tedc2 |
A |
C |
17: 24,435,315 (GRCm39) |
L358R |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,585,268 (GRCm39) |
S767G |
probably benign |
Het |
Thoc5 |
A |
G |
11: 4,854,133 (GRCm39) |
E27G |
probably damaging |
Het |
Ube3d |
C |
T |
9: 86,254,512 (GRCm39) |
G323D |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,485,774 (GRCm39) |
H1642L |
probably damaging |
Het |
Vmn1r10 |
A |
T |
6: 57,091,302 (GRCm39) |
H298L |
probably benign |
Het |
Xpo4 |
A |
T |
14: 57,880,956 (GRCm39) |
Y26N |
probably benign |
Het |
Zer1 |
A |
G |
2: 29,997,679 (GRCm39) |
L409P |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,382,332 (GRCm39) |
L256Q |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,355,902 (GRCm39) |
E376G |
possibly damaging |
Het |
|
Other mutations in Trappc8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01077:Trappc8
|
APN |
18 |
20,970,035 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01367:Trappc8
|
APN |
18 |
20,999,176 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01537:Trappc8
|
APN |
18 |
20,968,061 (GRCm39) |
missense |
probably benign |
|
IGL01563:Trappc8
|
APN |
18 |
20,970,103 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01982:Trappc8
|
APN |
18 |
21,007,769 (GRCm39) |
splice site |
probably benign |
|
IGL02709:Trappc8
|
APN |
18 |
20,970,235 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03126:Trappc8
|
APN |
18 |
20,996,652 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03290:Trappc8
|
APN |
18 |
20,953,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03348:Trappc8
|
APN |
18 |
20,985,838 (GRCm39) |
missense |
probably damaging |
1.00 |
hoppa
|
UTSW |
18 |
20,969,957 (GRCm39) |
missense |
probably benign |
0.05 |
Lagomorpha
|
UTSW |
18 |
20,951,247 (GRCm39) |
missense |
probably benign |
0.11 |
rabbit
|
UTSW |
18 |
21,007,737 (GRCm39) |
missense |
probably damaging |
1.00 |
E7848:Trappc8
|
UTSW |
18 |
20,983,975 (GRCm39) |
missense |
probably damaging |
0.99 |
R0483:Trappc8
|
UTSW |
18 |
20,978,658 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0492:Trappc8
|
UTSW |
18 |
20,999,243 (GRCm39) |
missense |
probably benign |
0.07 |
R0506:Trappc8
|
UTSW |
18 |
20,977,245 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0610:Trappc8
|
UTSW |
18 |
20,970,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R0892:Trappc8
|
UTSW |
18 |
20,964,665 (GRCm39) |
critical splice donor site |
probably null |
|
R1561:Trappc8
|
UTSW |
18 |
20,974,680 (GRCm39) |
nonsense |
probably null |
|
R1589:Trappc8
|
UTSW |
18 |
20,996,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R1700:Trappc8
|
UTSW |
18 |
20,966,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R1785:Trappc8
|
UTSW |
18 |
20,967,997 (GRCm39) |
splice site |
probably null |
|
R1786:Trappc8
|
UTSW |
18 |
20,967,997 (GRCm39) |
splice site |
probably null |
|
R1989:Trappc8
|
UTSW |
18 |
20,978,708 (GRCm39) |
missense |
probably benign |
0.04 |
R2181:Trappc8
|
UTSW |
18 |
20,952,279 (GRCm39) |
critical splice donor site |
probably null |
|
R2294:Trappc8
|
UTSW |
18 |
20,999,211 (GRCm39) |
nonsense |
probably null |
|
R4551:Trappc8
|
UTSW |
18 |
21,007,729 (GRCm39) |
missense |
probably benign |
0.10 |
R4594:Trappc8
|
UTSW |
18 |
20,970,005 (GRCm39) |
missense |
probably benign |
|
R4631:Trappc8
|
UTSW |
18 |
21,000,865 (GRCm39) |
missense |
probably benign |
0.22 |
R4734:Trappc8
|
UTSW |
18 |
20,974,629 (GRCm39) |
nonsense |
probably null |
|
R4834:Trappc8
|
UTSW |
18 |
20,958,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R5114:Trappc8
|
UTSW |
18 |
20,977,237 (GRCm39) |
missense |
probably benign |
0.04 |
R5262:Trappc8
|
UTSW |
18 |
20,951,247 (GRCm39) |
missense |
probably benign |
0.11 |
R5384:Trappc8
|
UTSW |
18 |
20,966,119 (GRCm39) |
splice site |
probably null |
|
R5476:Trappc8
|
UTSW |
18 |
20,998,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Trappc8
|
UTSW |
18 |
20,969,957 (GRCm39) |
missense |
probably benign |
0.05 |
R5577:Trappc8
|
UTSW |
18 |
20,969,836 (GRCm39) |
nonsense |
probably null |
|
R5809:Trappc8
|
UTSW |
18 |
20,951,139 (GRCm39) |
missense |
probably benign |
0.08 |
R5825:Trappc8
|
UTSW |
18 |
21,006,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Trappc8
|
UTSW |
18 |
21,007,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Trappc8
|
UTSW |
18 |
20,966,066 (GRCm39) |
missense |
probably damaging |
0.98 |
R6105:Trappc8
|
UTSW |
18 |
20,979,504 (GRCm39) |
critical splice donor site |
probably null |
|
R6229:Trappc8
|
UTSW |
18 |
21,003,802 (GRCm39) |
missense |
probably benign |
0.00 |
R6376:Trappc8
|
UTSW |
18 |
20,970,132 (GRCm39) |
missense |
probably benign |
0.07 |
R6403:Trappc8
|
UTSW |
18 |
20,999,128 (GRCm39) |
missense |
probably benign |
|
R6459:Trappc8
|
UTSW |
18 |
20,969,925 (GRCm39) |
missense |
probably benign |
0.40 |
R6673:Trappc8
|
UTSW |
18 |
21,018,314 (GRCm39) |
missense |
probably benign |
0.01 |
R7041:Trappc8
|
UTSW |
18 |
21,007,729 (GRCm39) |
missense |
probably benign |
0.10 |
R7276:Trappc8
|
UTSW |
18 |
20,951,148 (GRCm39) |
missense |
probably damaging |
0.99 |
R7341:Trappc8
|
UTSW |
18 |
20,985,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R7684:Trappc8
|
UTSW |
18 |
20,996,559 (GRCm39) |
missense |
probably benign |
0.01 |
R7702:Trappc8
|
UTSW |
18 |
20,958,119 (GRCm39) |
missense |
probably damaging |
0.99 |
R8210:Trappc8
|
UTSW |
18 |
21,006,938 (GRCm39) |
critical splice donor site |
probably null |
|
R8958:Trappc8
|
UTSW |
18 |
21,003,667 (GRCm39) |
missense |
probably benign |
0.02 |
R9037:Trappc8
|
UTSW |
18 |
20,961,539 (GRCm39) |
missense |
probably benign |
0.00 |
R9217:Trappc8
|
UTSW |
18 |
21,000,822 (GRCm39) |
missense |
probably benign |
0.01 |
R9246:Trappc8
|
UTSW |
18 |
20,993,590 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9623:Trappc8
|
UTSW |
18 |
20,983,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9766:Trappc8
|
UTSW |
18 |
20,979,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
X0065:Trappc8
|
UTSW |
18 |
20,993,579 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Trappc8
|
UTSW |
18 |
20,964,720 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGACCTTCATTTGCACAAAC -3'
(R):5'- AGGCTCAGGAGTGACACTTTC -3'
Sequencing Primer
(F):5'- GACCTTCATTTGCACAAACTTATAC -3'
(R):5'- GCTCAGGAGTGACACTTTCATTCTG -3'
|
Posted On |
2017-02-28 |